Phenotype #0000359697

Individual ID	00474904
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental syndrome
Diagnosis/Definite	DEDHIL
Phenotype details	see paper; ..., no prenatal anomalies; speech delay; no ophthalmologic problems; no hearing loss; laryngomalacia; birth lip/tongue tie (clipped); bicuspid aortic valve; frequent sinus infections, "underdeveloped maxillary sinus”; failure to thrive, poor suck/swallow coordination; GERD, blood in stool; bilateral cryptorchidism; no hematologic problems; no endocrine problems; no musculoskeletal problems; no immunological problems; ears that are mildly prominent and posteriorly rotated but otherwise normally formed and set, normal nasal bridge, good dentition, forehead is tall with a somewhat receded anterior hairline, horizontal with mildly long palpebral fissures, periorbital fullness noted and gives impression of eyes being somewhat deep set, bilateral epicanthal folds; 2nd toes bilaterally more dorsal insertion poin, 2nd toe overlaps toes 1 and 3, right>left, lymphedema dorsum each hand (not in feet); ild distal pectus excavatum
Inheritance	Isolated (sporadic)
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-27 14:20:42 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD